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| Congenital ophthalmoplegia v0.18 | PLXND1 | Zornitza Stark Marked gene: PLXND1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.18 | PLXND1 | Zornitza Stark Gene: plxnd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.18 | PLXND1 | Zornitza Stark Phenotypes for gene: PLXND1 were changed from möbius syndrome to Möbius syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.17 | PLXND1 | Zornitza Stark Classified gene: PLXND1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.17 | PLXND1 | Zornitza Stark Gene: plxnd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital ophthalmoplegia v0.8 | PLXND1 |
Shannon LeBlanc gene: PLXND1 was added gene: PLXND1 was added to Congenital fibrosis of the extraocular muscles. Sources: Literature Mode of inheritance for gene: PLXND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLXND1 were set to PMID: 26068067 Phenotypes for gene: PLXND1 were set to möbius syndrome Review for gene: PLXND1 was set to GREEN Added comment: PMID 26068067 : de novo mutations in 3 unrelated patients with moebius syndrome with some functional evidence. Sources: Literature |
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